Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

Inactivating mutations in the genes encoding the two subunits of the pancreatic beta‐cell K(ATP) channel, ABCC8 and KCNJ11, are the most common finding in children with congenital hyperinsulinism (HI). Interpreting novel missense variants in these genes is problematic, because they can be either dom...

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Pubblicato in:Am J Med Genet A
Autori principali: Boodhansingh, Kara E., Kandasamy, Balamurugan, Mitteer, Lauren, Givler, Stephanie, De Leon, Diva D., Shyng, Show‐Ling, Ganguly, Arupa, Stanley, Charles A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2019
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852436/
https://ncbi.nlm.nih.gov/pubmed/31464105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61335
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